MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0751316
Disease: Acquired Meningomyelocele
Acquired Meningomyelocele 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality 4 0.300 None 1.000 1 2006 2006
CUI: C0920269
Disease: Microsatellite Instability
Microsatellite Instability 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2007 2007
CUI: C1721098
Disease: Replication Error Phenotype
Replication Error Phenotype 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0.300 None 1.000 1 2007 2007
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 0.440 None 1.000 1 1996 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 39 253 0.390 None 1.000 1 1998 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 5 35 0.320 None 1.000 1 2006 2016
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 44 18 0.400 None 1.000 1 2001 2019
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 4 0.470 None 1.000 1 1 1999 2015
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 30 0.400 None 0.914 1 1995 2019
CUI: C0027806
Disease: Neurenteric Cyst
Neurenteric Cyst 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C0038219
Disease: Status Dysraphicus
Status Dysraphicus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2017 2017
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 3 0.500 None 0.962 1 1995 2017
CUI: C0086664
Disease: Myelocele
Myelocele 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 4 1 0.300 None 1.000 1 2006 2006
CUI: C0152234
Disease: Iniencephaly
Iniencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C0152426
Disease: Craniorachischisis
Craniorachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 29 0.300 None 1.000 1 2012 2012
CUI: C0266453
Disease: Exencephaly
Exencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C0266508
Disease: Rachischisis
Rachischisis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 12 0.300 None 1.000 1 2017 2017
CUI: C0344479
Disease: Spinal Cord Myelodysplasia
Spinal Cord Myelodysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C0524948
Disease: Maxillofacial Abnormalities
Maxillofacial Abnormalities 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2006 2006
CUI: C0702169
Disease: Acrania
Acrania 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 28 0.300 None 1.000 1 2012 2012
CUI: C1960883
Disease: Spina bifida aperta of cervical spine
Spina bifida aperta of cervical spine 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.300 None 1.000 1 2012 2012
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		disease Disease or Syndrome 1 75 0.800 definitive 1.000 16 75 1991 2019
CUI: C0598608
Disease: Hyperhomocysteinemia
Hyperhomocysteinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 11 0.400 None 0.927 11 1995 2019
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 1 0.300 definitive 1.000 7 1994 2017